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- source_evidence_literature type ECO_0000212 NP1378705.RAEdEAOO_YJrnD1_T_8M6aSFqAZ9cyAJ7Zt9JcAizDMew130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1378705.RAEdEAOO_YJrnD1_T_8M6aSFqAZ9cyAJ7Zt9JcAizDMew130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1378705.RAEdEAOO_YJrnD1_T_8M6aSFqAZ9cyAJ7Zt9JcAizDMew130_provenance.
- NP1378705.RAEdEAOO_YJrnD1_T_8M6aSFqAZ9cyAJ7Zt9JcAizDMew130_assertion description "[Supportive evidence for linkage to a JAE related IGE spectrum (Zmax = 1.67 at GRIK1) under an autosomal dominant mode of inheritance and significant allele sharing (P < 0.05) among the affected family members suggest that allelic variants of GRIK1 contribute a major genetic determinant to the pathogenesis of JAE-related phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1378705.RAEdEAOO_YJrnD1_T_8M6aSFqAZ9cyAJ7Zt9JcAizDMew130_provenance.
- NP1378705.RAEdEAOO_YJrnD1_T_8M6aSFqAZ9cyAJ7Zt9JcAizDMew130_assertion evidence source_evidence_literature NP1378705.RAEdEAOO_YJrnD1_T_8M6aSFqAZ9cyAJ7Zt9JcAizDMew130_provenance.
- NP1378705.RAEdEAOO_YJrnD1_T_8M6aSFqAZ9cyAJ7Zt9JcAizDMew130_assertion SIO_000772 9259378 NP1378705.RAEdEAOO_YJrnD1_T_8M6aSFqAZ9cyAJ7Zt9JcAizDMew130_provenance.
- NP1378705.RAEdEAOO_YJrnD1_T_8M6aSFqAZ9cyAJ7Zt9JcAizDMew130_assertion wasDerivedFrom befree-2016 NP1378705.RAEdEAOO_YJrnD1_T_8M6aSFqAZ9cyAJ7Zt9JcAizDMew130_provenance.
- NP1378705.RAEdEAOO_YJrnD1_T_8M6aSFqAZ9cyAJ7Zt9JcAizDMew130_assertion wasGeneratedBy ECO_0000203 NP1378705.RAEdEAOO_YJrnD1_T_8M6aSFqAZ9cyAJ7Zt9JcAizDMew130_provenance.
- befree-2016 importedOn "2016-02-19" NP1378705.RAEdEAOO_YJrnD1_T_8M6aSFqAZ9cyAJ7Zt9JcAizDMew130_provenance.